Team Telomere, Inc

Cycle 2

Web:

Contact:

Telomere biology disorders are a complex set of illnesses, including dyskeratosis congenita, defined by the presence of very short telomeres (the regions at the end of chromosomes). Telomere biology disorders are associated with a higher risk of cancers, including leukemia and head/neck cancer.

Last updated May 2024

Clinical

Disease Class

Rare bone diseases

Rare circulatory system diseases

Rare developmental anomalies during embryogenesis

Rare endocrine diseases

Rare gastroenterological diseases

Rare genetic diseases

Rare gynecological and obstetric diseases

Rare hematological diseases

Rare hepatic diseases

Rare immunological diseases

Rare neoplastic diseases

Rare neurological diseases

Rare ophthalmic diseases

Rare renal diseases

Rare respiratory diseases

Rare skin diseases

Rare systemic and rheumatological diseases of childhood

Rare urogenital diseases

Body Systems

Cardiovascular / Circulatory

Digestive

Hematopoietic / Lymphatic / Immune

Integumentary / Exocrine

Muscular / Skeletal

Nervous / Sensory

Respiratory

Organs

Blood

Bone marrow

Bones

Brain

Connective tissue / joints

Esophagus

Eyes

Intestines

Liver

Lungs

Mouth / teeth

Skin

Genes

ACD

CTC1

DKC1

NAF1

NHP2

NOP10

PARN

POT1

RPA1

RTEL1

STN1

TERC

TERT

TINF2

TYMS

WRAP53

ZCCHC8

Type of Inheritance

Autosomal dominant

Autosomal recessive

De novo

Not specified / unknown

X-linked recessive

Disease Mechanism(s)

Abnormal cell proliferation

Abnormal telomere maintenance

Altered DNA repair mechanism

Enzyme deficiency

Pathogenic mutation

Telomere modification

Age of Onset

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Elderly (age 65+)

Infancy (age 0-1)

Middle childhood (6-11)

Prebirth

Incidence

101-1000

Prevalence

1001-10000

Populations and/or ancestry with higher prevalence

Possible founder mutations - yet to be studied systematically

Symptoms / Phenotypes

abnormal small intestine morphology

avascular necrosis

bone marrow failure / bone marrow hypocellularity

cancer, brain tumor

cancer, leukemia

capillary malformation

cerebellar hypoplasia

enterocolitis

esophageal stenosis

intrahepatic portal vein sclerosis

liver disease

nail dysplasia

oral leukoplakia

pulmonary fibrosis

reticulated skin pigmentation

telangiectases

venous malformation

Biomarkers

Diagnostic

· Telomere Length Testing with flowFISH

Prognostic

· Telomere length / genetic testing

Existing Therapies

Other

· Transplantation (BMT, lung transplant, and liver transplant) and symptom management

Organizational & Research

Cell Lines

Cancer/tumor cells

CD34 cells

Fibroblasts

iPSCs

Organoids

Cell Lines, location

Boston Children's Hospital

University of British Columbia

University of Pennsylvania (PENN)

Cell Lines, share

IDK

Disease Model

Mouse

Organoids

Yeast

Zebrafish

Disease Model, location

Not specified

Disease Model, share

Unknown

Clinical Trial Role

Data sharing

Focus group

Funding

Recruitment and outreach, patients

Recruitment and outreach, trial sites/physicians

Results dissemination, publication

Study material design, review (not protocol)

Study protocol design, review

Biobank

None

Center of Excellence

None

Registry

Yes, we have a registry that we created

Data Collected, Registry

Clinical data

Genetic data

Longitudinal natural history data

Medication usage

Patient contact info

Patient-reported data

Data Entered by, Registry

Patients

Platform, Registry

RARE-X

Natural History Study

Yes, we have collaborated on a natural history study

Data Collected, Natural History Study

Electronic health records/electronic medical records

Genetic data

Medication usage

Prospective data

Retrospective data

Platform, Natural History Study

Not specified

FDA Patient Listening Session

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

We are working on obtaining an ICD-10 code

We are working on obtaining an ICD-11 code

Diagnostic Guidelines

Yes

Clinical/Treatment Guidelines

Yes

Organizational Roles

Executive Director

Patient Engagement Manager/Director

Research/Scientific Director

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN but no policies

Research Roadmap

We don't have a Research Roadmap

International Chapters

Asia

Europe

North America

Oceania

South America

International Partners

Europe

North America